A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039262



Internal ID18781793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19350746hg38UCSC Ensembl
Innerchr14:19002112..19938429hg19UCSC Ensembl
Innerchr14:18072112..19008429hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381125112
hg19936318
hg18936318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1752n100
Supporting Variantsnssv3713349, nssv3713351, nssv3526841, nssv3526843, nssv3713350, nssv3526842
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039262
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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